Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1

ObjectiveWolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA). We aim to characterize clinical features in Chinese patients who had been poorly studied until now.MethodsWe performed a retrospective review of patient...

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Detalhes bibliográficos
Main Authors: Lian Duan, Qian Li, An-Li Tong, Jiang-Feng Mao, Miao Yu, Tao Yuan, Xiao-Feng Chai, Feng Gu
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018-02-01
Colecção:Frontiers in Endocrinology
Assuntos:
Wolfram syndrome
DIDMOAD
WFS1
diabetes mellitus
optic atrophy
Acesso em linha:http://journal.frontiersin.org/article/10.3389/fendo.2018.00018/full
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